title: Pyrosequencing of clinically relevant polymorphisms.
abstract: Despite the influx of high throughput sequencing techniques, there is still a niche for low-medium throughput genotyping technologies for small-scale screening and validation purposes. Pyrosequencing is a genotyping assay based on sequencing-by-synthesis. Short runs of sequence around each polymorphism are generated, allowing for internal controls for each sample. Pyrosequencing can also be utilized to identify tri-allelic, indel, and short repeat polymorphisms, as well as determining allele percentages for methylation or pooled sample assessment. This range of applications makes it well-suited to the research laboratory as a one-stop system.
authors.affiliation: Department of Internal Medicine, Washington University in St. Louis, St. Louis, MO, USA.
authors.forename: Cristi R
authors.initials: CR
authors.lastname: King
authors.forename: Sharon
authors.initials: S
authors.lastname: Marsh
mesh_terms: D000483:Alleles; D060005:Genotyping Techniques / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic